SwePub
Tyck till om SwePub Sök här!
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Van Den Berg David) ;hsvcat:4"

Sökning: WFRF:(Van Den Berg David) > Lantbruksvetenskap

  • Resultat 1-3 av 3
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  • Walsh, Roddy, et al. (författare)
  • Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
  • 2021
  • Ingår i: Genetics in Medicine. - : Nature Publishing Group. - 1098-3600 .- 1530-0366. ; 23:1, s. 47-58
  • Tidskriftsartikel (refereegranskat)abstract
    • Purpose: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific customization of American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines can address this false negative rate.Methods: We compared rare variant frequencies from 1847 LQTS (KCNQ1/KCNH2/SCN5A) and 3335 BrS (SCN5A) cases from the International LQTS/BrS Genetics Consortia to population-specific gnomAD data and developed disease-specific criteria for ACMG/AMP evidence classes-rarity (PM2/BS1 rules) and case enrichment of individual (PS4) and domain-specific (PM1) variants.Results: Rare SCN5A variant prevalence differed between European (20.8%) and Japanese (8.9%) BrS patients (p = 5.7 x 10(-18)) and diagnosis with spontaneous (28.7%) versus induced (15.8%) Brugada type 1 electrocardiogram (ECG) (p = 1.3 x 10(-13)). Ion channel transmembrane regions and specific N-terminus (KCNH2) and C-terminus (KCNQ1/KCNH2) domains were characterized by high enrichment of case variants and >95% probability of pathogenicity. Applying the customized rules, 17.4% of European BrS and 74.8% of European LQTS cases had (likely) pathogenic variants, compared with estimated diagnostic yields (case excess over gnomAD) of 19.2%/82.1%, reducing VUS prevalence to close to background rare variant frequency.Conclusion: Large case-control data sets enable quantitative implementation of ACMG/AMP guidelines and increased sensitivity for inherited arrhythmia genetic testing.
  •  
2.
  • Potapov, Anton M., et al. (författare)
  • Globally invariant metabolism but density-diversity mismatch in springtails
  • 2023
  • Ingår i: Nature Communications. - : Springer Nature. - 2041-1723. ; 14:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Soil life supports the functioning and biodiversity of terrestrial ecosystems. Springtails (Collembola) are among the most abundant soil arthropods regulating soil fertility and flow of energy through above- and belowground food webs. However, the global distribution of springtail diversity and density, and how these relate to energy fluxes remains unknown. Here, using a global dataset representing 2470 sites, we estimate the total soil springtail biomass at 27.5 megatons carbon, which is threefold higher than wild terrestrial vertebrates, and record peak densities up to 2 million individuals per square meter in the tundra. Despite a 20-fold biomass difference between the tundra and the tropics, springtail energy use (community metabolism) remains similar across the latitudinal gradient, owing to the changes in temperature with latitude. Neither springtail density nor community metabolism is predicted by local species richness, which is high in the tropics, but comparably high in some temperate forests and even tundra. Changes in springtail activity may emerge from latitudinal gradients in temperature, predation and resource limitation in soil communities. Contrasting relationships of biomass, diversity and activity of springtail communities with temperature suggest that climate warming will alter fundamental soil biodiversity metrics in different directions, potentially restructuring terrestrial food webs and affecting soil functioning.
  •  
3.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 1-3 av 3
Typ av publikation
tidskriftsartikel (2)
konferensbidrag (1)
Typ av innehåll
refereegranskat (2)
övrigt vetenskapligt/konstnärligt (1)
Författare/redaktör
Rydberg, Annika (1)
Platonov, Pyotr G (1)
Ahlbäck Widenfalk, L ... (1)
Arbelo, Elena (1)
Alatalo, Juha M. (1)
Čuchta, Peter (1)
visa fler...
Rashid, Muhammad Imt ... (1)
Mazzanti, Andrea (1)
Tadros, Rafik (1)
Probst, Vincent (1)
Olesen, Morten S. (1)
Greve, Michelle (1)
Kurabayashi, Masahik ... (1)
Shoemaker, M. Benjam ... (1)
Roden, Dan M. (1)
Ellinor, Patrick T. (1)
Lubitz, Steven A. (1)
Brugada, Josep (1)
Bezieau, Stephane (1)
Berglund, Kerstin (1)
Glinge, Charlotte (1)
Tfelt-Hansen, Jacob (1)
Bezzina, Connie R. (1)
Berg, Matty P. (1)
Mörner, Stellan (1)
Jochum, Malte (1)
Shimizu, Wataru (1)
Ackerman, Michael J. (1)
Kanters, Jorgen K. (1)
Sacher, Frederic (1)
Lundin, Catarina (1)
Borggrefe, Martin (1)
Chen, Ting-Wen (1)
Berglund, Örjan (1)
Clauss, Sebastian (1)
Guicheney, Pascale (1)
Tester, David J. (1)
Sun, Xin (1)
Holmstrup, Martin (1)
Scheu, Stefan (1)
Janion-Scheepers, Ch ... (1)
Pollierer, Melanie M (1)
Ferlian, Olga (1)
Priori, Silvia G (1)
Krab, Eveline J (1)
Classen, Aimée T. (1)
Bokhorst, Stef (1)
Mansourati, Jacques (1)
Chown, Steven L. (1)
Sarquella-Brugada, G ... (1)
visa färre...
Lärosäte
Umeå universitet (2)
Sveriges Lantbruksuniversitet (2)
Lunds universitet (1)
Språk
Engelska (3)
Forskningsämne (UKÄ/SCB)
Lantbruksvetenskap (3)Ta bort avgränsningen
Naturvetenskap (1)
Medicin och hälsovetenskap (1)

År

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy